Genome-wide profiling of genetic variation at tandem repeat from long reads

Ziaei Jam, H.; Zook, J. M.; Javadzadeh, S.; Park, J.; Sehgal, A.; Gymrek, M.

doi:10.1101/2024.01.20.576266

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bioRxiv · 10.1101/2024.01.20.576266

Genome-wide profiling of genetic variation at tandem repeat from long reads

Ziaei Jam, H.·Zook, J. M.·Javadzadeh, S.·Park, J.·Sehgal, A.·Gymrek, M.

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Abstract

Tandem repeats are frequent across the human genome, and variation in repeat length has been linked to a variety of traits. Recent improvements in long read sequencing technologies have the potential to greatly improve TR analysis, especially for long or complex repeats. Here we introduce LongTR, which accurately genotypes tandem repeats from high fidelity long reads available from both PacBio and Oxford Nanopore Technologies. LongTR is freely available at https://github.com/gymrek-lab/longtr.

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Ziaei Jam, H., Zook, J. M., Javadzadeh, S., Park, J., Sehgal, A., Gymrek, M.. 2024-01-23. Genome-wide profiling of genetic variation at tandem repeat from long reads. https://doi.org/10.1101/2024.01.20.576266

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